ClinVar Miner

Submissions for variant NM_000287.4(PEX6):c.237_238del (p.Leu80fs)

dbSNP: rs1178535907
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001038583 SCV001202060 pathogenic Peroxisome biogenesis disorder 2019-05-13 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in PEX6 are known to be pathogenic (PMID: 8670792, 19877282, 21031596). This variant has not been reported in the literature in individuals with PEX6-related conditions. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the ExAC database. This sequence change creates a premature translational stop signal (p.Leu80Alafs*79) in the PEX6 gene. It is expected to result in an absent or disrupted protein product.

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